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血管性血友病的基因变异

Genetic variants of von Willebrand's disease.

作者信息

Holmberg L, Nilsson I M

出版信息

Br Med J. 1972 Aug 5;3(5822):317-20. doi: 10.1136/bmj.3.5822.317.

Abstract

A specific antiserum against an antihaemophilic factor (AHF)-related plasma protein was raised in rabbits. A quantitative immunochemical method was used to determine the amount of this protein present in the plasma of 33 patients with haemophilia A and 70 patients with von Willebrand's disease. The protein probably consisted of AHF residing in or complexed with the von Willebrand factor. The patients with von Willebrand's disease were shown to fall into two separate genetic groups, one with decreased and one with normal amounts of the AHF-related protein. The patients with haemophilia A had normal amounts of the protein in their plasma.

摘要

在兔子体内制备了一种针对抗血友病因子(AHF)相关血浆蛋白的特异性抗血清。采用定量免疫化学方法测定了33例甲型血友病患者和70例血管性血友病患者血浆中该蛋白的含量。该蛋白可能由存在于血管性血友病因子中或与之结合的AHF组成。结果显示,血管性血友病患者可分为两个不同的基因组,一组AHF相关蛋白含量降低,另一组含量正常。甲型血友病患者血浆中该蛋白含量正常。

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Genetic variants of von Willebrand's disease.血管性血友病的基因变异
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ON A SWEDISH FAMILY WITH 51 MEMBERS AFFECTED BY VON WILLEBRAND'S DISEASE.
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